Gliederung

Association studies aim to find genetic variants associated with a particular phenotype or disease. Most genetic association studies rely on a set of markers or single nucleotide polymorphisms (SNPs). Recently researchers are starting to look at other sources of genetic variation such as copy number variation (CNV). Copy number variation refers to deletions, duplications and more complex variations of DNA segments. In a recent publication Redon et al [Ref.Â 1] have constructed a first genome-wide human CNV map in the HapMap population. In total, they found 1,447 copy number variable regions covering 360 megabases (12% of the genome). These regions contained hundreds of genes and disease loci.

KORA (Cooperative Health Research in the Region of Augsburg, Germany, Wichmann et al. [Ref.Â 2]) is a population-based research platform. In total, four surveys have been conducted. KORA S3 consists of representative samples of 4,856 subjects. In 2003/04, 2,974 participants returned for follow-up (KORA F3). With 1644 of these subjects from the age-range 25-69 years a genome-wide analysis has been performed using Affymetrix GeneChip 500K arrays containing approximately 500,000 SNPs. Based on the KORA 500K data we present a comparison between the CNVs found in KORA and those found in the HapMap population that is used by Redon et al. CNVs are functionally significant therefore it is meaningful to search for associations with disease phenotypes and their intermediate phenotypes. We will present first results of genome-wide CNV analyses and selected KORA phenotypes.